Paediatric Genetics Flashcards
What are some conditions that patients suffering from down sydrome are perdisposed to?
Congenital heart disease
Weakened immunity
Early onset Alzheimer’s
Hypothyroidism
What are some worrying head features that may be seen in children with developmental abnormalities?
abnormal shape of the head
Macro / microcephaly
Ear position is abnormal - low set and posteriorly roated indicates lack of maturity
What are some commonly seen eye abnormalities in children with genetic syndromes?
Hypertelorism - increased space between eyes
Telecanthus / epicanthic folds -
Hypotelorism
What are some commonly seen hand abnormalities in children with genetic syndromes? What syndromes may cause these abnormalities?
Finger length abnormalities
- arachnodactyly (long) / brachydactyly (short)
Digital abnormalities
Palmar crease number abmormality
Downs / Marfans
What is polysyndactyly?
More digits than you should have (6+) with some of the digits being stuck togethet
poly - more
syn - stuck together
dactyly - fingers
What is acrocephalopolysyndactyly?
Syndrome consisting of:
- Tall forehead
- More digits than normal
- Some of the digits stuck together
What is fetal akinesia?
Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities
What are deformation & disruption with regards to genetic abnormalities?
Deformation - part of the organ are there but underdeveloped / incorrectly developed
Disruption - parts of the organ / body are absent
What is aplasia?
The failure of an organ or tissue to develop correctly
What is VATER syndrome?
Syndrome composed of:
- Vertebral abnormalities
- Ano-rectal atresia
- Treacheo-oesophageal fistula
- Radial anomalies (aplasia)
What is atresia?
Where an orifice or passage in the body is abnormally closed or absent
What genetic abnormality results in Turner syndrome?
Presence of an X but no Y chromosome
also called 45 X
What are some of the cardinal features of Turner syndrome?
Lymphoedema (puffy feet, nuchal translucency, cystic hygroma)
Short stature, mild learning difficulty
Low hairline at the back, increased space between nipples
Sandal gap deformity
What are some conditions that are closely associated with Turner syndrome?
Coarctation of the aorta
Hypothyroidism
** Primary amenorrhoea and infertility
UTI / osteoporosis / hypertension
What are the first steps towards investigating a suspected learning disability?
Microarray (chromosome # and complement)
Fragile X gene analysis
- From there proceed to targetted tests determined by the phenotype of the child
